Table 1 Diseases selected and indications for CGH array analysis
Disease | Inheritance | Gene | Reported frequency of CNMs | Reference | Indications for CGH analysis |
|---|---|---|---|---|---|
Myopathies | |||||
Dystrophinopathies | XR | DMD | 70% | Leiden muscular dystrophy pages (http://www.dmd.nl/)2, 3 | Diagnosis: first molecular screening (all index cases) Determination of boundaries |
Sarcoglycanopathies | AR | SGCA (alpha-SG) | Rare (few cases) | Leiden muscular dystrophy pages (http://www.dmd.nl/)17 | Patients with only one point mutation identified, or abnormal immunolabeling and no point mutation detected |
AR | SGCB (beta-SG) | Very rare (few cases) | Leiden muscular dystrophy pages (http://www.dmd.nl/) | Patients with only one point mutation identified, or abnormal immunolabeling and no point mutation detected | |
AR | SGCG (gamma-SG) | Rare (few cases) | Leiden muscular dystrophy pages (http://www.dmd.nl/)16, 17 | Patients with only one point mutation identified, or abnormal immunolabeling and no point mutation detected | |
AR | SGCD (delta-SG) | No reported case | Patients with only one point mutation identified, or abnormal immunolabeling and no point mutation detected | ||
Emery Dreifuss syndrome | XR | EMD | Few cases | Leiden muscular dystrophy pages (http://www.dmd.nl/)18 | Typical clinical syndrome, no point mutation in the EMD gene nor in LAMA2 gene |
Mental retardation | |||||
Rett syndrome (RTT); Neonatal encephalopathy in males | XD | MECP2 | 5% of females with RTT 2% of males with severe encephalopathy Large CNMs | RTT females without point mutation in the MECP2 gene. First molecular screening in males with severe encephalopathy | |
Rett variant with early epilepsy | XD | CDKL5 | Rare, >20 cases | Atypical RTT Females without point mutation in the MECP2 and CDKL5 genes | |
RTT variant with congenital form | AD, de novo | FOXG1 | Rare, <20 cases | Congenital variant of Rett syndrome without point mutations in the MCEP2 and FOXG1 genes | |
Rett-like syndrome | AD | Netrin G1 | 1 Case of translocation | Typical and atypical RTT patients without mutations in the MECP2, CDKL5 and FOXG1 genes | |
Rett-like syndrome | AD | JNK3 | 1 Case of translocation | Typical and atypical RTT patients without mutations in the MECP2, CDKL5 and FOXG1 genes | |
Fragile X syndrome | XD | FMR1 | Rare (deletions) | Patients without expansion and with highly evocative phenotype | |
XR | FMR2 | Rare (deletions) | Patients without expansion and with highly evocative phenotype | ||
Mental retardation because of ARX | XR | ARX | Rare (deletions) | Patients with no point mutation and with evocative phenotype | |
Lissencephalies and other cortical brain malformations | XD | DCX | Deletions and duplications described (large CNMs) | Patients with no point mutation and with evocative phenotype. Determination of boundaries | |
XR | OPHN1 | Rare | Patients with no point mutation and with evocative phenotype | ||
AD | LIS1 (Pafah1b1) | 60% (Deletions) (large CNMs) | Patients with no point mutation and with evocative phenotype. Determination of boundaries | ||
AD | TUBA1A | Patients with no point mutation and with evocative phenotype | |||
AD | TUBB2B | Patients with no point mutation and with evocative phenotype | |||
AD | TUBB3 | Patients with no point mutation and with evocative phenotype | |||
AD | TUBB6 | Patients with no point mutation and with evocative phenotype | |||
AD | TUBB5 | Patients with no point mutation and with evocative phenotype | |||
Other diseases | |||||
Cystic fibrosis or CFTR-related disorder | AR | CFTR | 2.5–5% | Cystic fibrosis mutation database (www.genet.sickkids.on.ca/cftr/)1, 4 | Patients with cystic fibrosis or CFTR-related disorder heterozygous for a point mutation |
Kallmann syndrome | KAL1 | 10% (large CNMs) | Males without point mutations in the 5 KAL genes Determination of boundaries | ||
Hemophilia A | XR | F8 | 5–10% | Cases without recurrent intron 22 and intron 1 F8 inversions and without point mutations | |
